半胱天冬酶8单核苷酸多态性D302H（rs1045485）与MYCN扩增的神经母细胞瘤患者较差的生存率相关。
CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patients.
作者信息
Rihani Ali, De Wilde Bram, Zeka Fjoralba, Laureys Geneviève, Francotte Nadine, Tonini Gian Paolo, Coco Simona, Versteeg Rogier, Noguera Rosa, Schulte Johannes H, Eggert Angelika, Stallings Raymond L, Speleman Frank, Vandesompele Jo, Van Maerken Tom
机构信息
Center for Medical Genetics, Ghent University, Ghent, Belgium.
Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
出版信息
PLoS One. 2014 Dec 11;9(12):e114696. doi: 10.1371/journal.pone.0114696. eCollection 2014.
BACKGROUND
Neuroblastoma is a pediatric cancer that exhibits a wide clinical spectrum ranging from spontaneous regression in low-risk patients to fatal disease in high-risk patients. The identification of single nucleotide polymorphisms (SNPs) may help explain the heterogeneity of neuroblastoma and assist in identifying patients at higher risk for poor survival. SNPs in the TP53 pathway are of special importance, as several studies have reported associations between TP53 pathway SNPs and cancer. Of note, less than 2% of neuroblastoma tumors have a TP53 mutation at diagnosis.
PATIENTS AND METHODS
We selected 21 of the most frequently studied SNPs in the TP53 pathway and evaluated their association with outcome in 500 neuroblastoma patients using TaqMan allelic discrimination assays.
RESULTS AND CONCLUSION
We investigated the impact of 21 SNPs on overall survival, event-free survival, age at diagnosis, MYCN status, and stage of the disease in 500 neuroblastoma patients. A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors.
背景
神经母细胞瘤是一种儿科癌症，临床表现范围广泛，从低风险患者的自发消退到高风险患者的致命疾病。单核苷酸多态性（SNP）的鉴定可能有助于解释神经母细胞瘤的异质性，并有助于识别生存预后较差风险较高的患者。TP53通路中的SNP尤为重要，因为多项研究报道了TP53通路SNP与癌症之间的关联。值得注意的是，不到2%的神经母细胞瘤肿瘤在诊断时存在TP53突变。
患者与方法
我们选择了TP53通路中21个最常研究的SNP，并使用TaqMan等位基因鉴别分析评估它们与500例神经母细胞瘤患者预后的关联。
结果与结论
我们研究了21个SNP对500例神经母细胞瘤患者总生存、无事件生存、诊断年龄、MYCN状态和疾病分期的影响。CASP8基因SNP D302H第10外显子的一个错义SNP与MYCN扩增的神经母细胞瘤肿瘤患者较差的总生存和无事件生存相关。
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